04 May 2021
Undiagnosed metabolic disorders v1.456
OCRL
Eleanor Williams Phenotypes for gene: OCRL were changed from Dent disease 2 300555; Lowe syndrome 309000 to Dent disease 2, OMIM:300555; Lowe syndrome, OMIM:309000
04 May 2021
Undiagnosed metabolic disorders v1.455
OCRL
Eleanor Williams Publications for gene: OCRL were set to 27604308; 8504307; 9632163; 9632163; 15627218; 27625797
04 May 2021
Undiagnosed metabolic disorders v1.454
OCRL
Eleanor Williams reviewed gene: OCRL: Rating: ; Mode of pathogenicity: None; Publications: 33517444; Phenotypes: ; Mode of inheritance: None
19 Aug 2019
Undiagnosed metabolic disorders v1.213
OCRL
Sarah Leigh Classified gene: OCRL as Green List (high evidence)
19 Aug 2019
Undiagnosed metabolic disorders v1.213
OCRL
Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for both Dent disease 2 300555 and Lowe syndrome 309000. At least 5variants reported in Dent disease 2 300555 and 4 variants in Lowe syndrome 309000.
19 Aug 2019
Undiagnosed metabolic disorders v1.213
OCRL
Sarah Leigh Gene: ocrl has been classified as Green List (High Evidence).
19 Aug 2019
Undiagnosed metabolic disorders v1.212
OCRL
Sarah Leigh Added comment: Comment on phenotypes: Lowe syndrome (Disorders of amino acid transport);Cataracts;Intellectual disability;Intellectual_disability;Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
19 Aug 2019
Undiagnosed metabolic disorders v1.212
OCRL
Sarah Leigh Phenotypes for gene: OCRL were changed from Lowe syndrome (Disorders of amino acid transport); Cataracts; Intellectual disability; Intellectual_disability; Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) to Dent disease 2 300555; Lowe syndrome 309000
19 Aug 2019
Undiagnosed metabolic disorders v1.211
OCRL
Sarah Leigh Publications for gene: OCRL were set to 27604308
19 Aug 2019
Undiagnosed metabolic disorders v1.210
OCRL
Sarah Leigh Deleted their comment
19 Aug 2019
Undiagnosed metabolic disorders v1.210
OCRL
Sarah Leigh Deleted their comment
19 Aug 2019
Undiagnosed metabolic disorders v1.210
OCRL
Sarah Leigh Deleted their comment
19 Aug 2019
Undiagnosed metabolic disorders v1.210
OCRL
Sarah Leigh Deleted their comment
19 Aug 2019
Undiagnosed metabolic disorders v1.210
OCRL
Sarah Leigh Deleted their comment
19 Aug 2019
Undiagnosed metabolic disorders v1.210
OCRL
Sarah Leigh Deleted their comment
19 Aug 2019
Undiagnosed metabolic disorders v1.210
OCRL
Sarah Leigh Deleted their comment
06 Jan 2017
Undiagnosed metabolic disorders
OCRL
Sarah Leigh edited their review of OCRL
06 Jan 2017
Undiagnosed metabolic disorders
OCRL
Sarah Leigh edited their review of OCRL
06 Jan 2017
Undiagnosed metabolic disorders
OCRL
Sarah Leigh edited their review of OCRL
06 Jan 2017
Undiagnosed metabolic disorders
OCRL
Sarah Leigh edited their review of OCRL
06 Jan 2017
Undiagnosed metabolic disorders
OCRL
Sarah Leigh edited their review of OCRL
06 Jan 2017
Undiagnosed metabolic disorders
OCRL
Sarah Leigh edited their review of OCRL
06 Jan 2017
Undiagnosed metabolic disorders
OCRL
Sarah Leigh edited their review of OCRL
06 Jan 2017
Undiagnosed metabolic disorders
OCRL
Sarah Leigh reviewed OCRL